Browsing by Author "Sousa, M."
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- Environmental impact and costs of a switching program of intravenous to subcutaneous infliximab in Inflammatory Bowel DiseasePublication . Oliveira, R.; Roseira, J.; Araújo, N.; Cavaco, C.; André, J.; Sousa, M.; Sousa, H. Tavares de; Cunha, M.We aimed to compare real-life direct and indirect costs and the environmental impact of switching IBD patients from IV to SC infliximab (IFX).
- Identification of androgen receptor variants in testis from humans and other vertebratesPublication . Laurentino, S. S.; Pinto, Patricia IS; Tomas, J.; Cavaco, J. E. B.; Sousa, M.; Barros, A.; Power, Deborah; Canario, Adelino V. M.; Socorro, S.The androgen receptor (AR) is a ligand-activated transcription factor member of the nuclear receptor superfamily. The existence of alternatively spliced variants is well recognised for several members of this superfamily, most of them having functional importance. For example, several testicular oestrogen receptor variants have been suggested to play a role in the regulation of spermatogenesis. However, information on AR variants is mostly related to cancer and androgen insensitivity syndrome (AIS) cases. The objective of this study was to investigate the expression of AR variants in the testis from humans and other vertebrates. Four AR variants [ARD2Stop, ARD223Stop, ARD3 and ARD4(120)] were identified in human testis. ARD2Stop and ARD3, with exon 2 or 3 deleted, respectively, were also expressed in human liver, lung, kidney and heart. In addition, ARD2Stop was expressed in rat and gilthead seabream testis, while an ARD3 was detected in African clawed frog testis. This is the first report revealing the existence of AR variants in the testis of evolutionarily distant vertebrate species and in nonpathological tissues. These data suggest the functional importance of these novel AR forms and demonstrate a complexity in AR signalling that is not exclusive of pathological conditions.
- Is preoperative chemosensitivity associated with improved outcomes in locally advanced gastric cancer? A multicentric retrospective real-world studyPublication . Caleça, T.; Honório, M.; Sousa, M.; Ribeiro, J.; Fortuna, A.; Silva, D. Neto da; Albuquerque, J.; Menezes, M.; Trabulo, C.; Costa, D.Perioperative chemotherapy (PCT) is the standard of care for locally advanced gastric cancer (LAGC) in western countries. However, less than 60% of patients complete the adjuvant part of treatment due to postoperative complications, toxicity and disease progression (DP). This study aim is to evaluate if preoperative chemosensitivity (POCS) is associated with improved overall survival (OS) and disease free survival (DFS).
- Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosisPublication . Parreira, B.; Couto, A. R.; Rocha, F.; Sousa, M.; Faustino, V.; Power, Deborah; Bruges-Armas, J.Objectives: DISH/CC is a poorly understood phenotype characterised by peripheral and axial enthesopathic calcifications, frequently fulfilling the radiological criteria for Diffuse Idiopathic Skeletal Hyperostosis (DISH, MIM 106400), and in some cases associated with Calcium Pyrophosphate Dihydrate (CPPD) Chondrocalcinosis (CC). The concurrence of DISH and CC suggests a shared pathogenic mechanism. In order to identify genetic variants for susceptibility we performed whole exome sequencing in four patients showing this phenotype. Materials and methods: Exome data were filtered in order to find a variant or a group of variants that could be associated with the DISH/CC phenotype. Variants of interest were subsequently confirmed by Sanger sequencing. Selected variants were screened in a cohort of 65 DISH/CC patients vs 118 controls from Azores. The statistical analysis was performed using PLINK V1.07. Results:We identified 21 genetic variants in 17 genes that were directly or indirectly related to mineralization, several are predicted to have a strong effect at a protein level. Phylogenetic analysis of altered amino acids indicates that these are either highly conserved in vertebrates or conserved in mammals. In case-control analyses, variant rs34473884 in PPP2R2D was significantly associated with the DISH/CC phenotype (p=0.028; OR=1.789, 95% CI= 1.060 - 3.021)). Conclusion: The results of the present and preceding studies with the DISH/CC families suggests that the phenotype has a polygenic basis. The PPP2R2D gene could be involved in this phenotype in an as yet unknown way.